Marfan Syndrome

Marfan syndrome is a genetic disorder associated with abnormal connective tissue. It is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1, a protein in connective tissue.

Marfan syndrome affects the connective tissue throughout the body. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in controlling how the body grows and develops.

Men, women, and children can have Marfan syndrome. It is found in people of all races and ethnic groups.

Marfan syndrome can be mild to severe, and the symptoms can vary. People with Marfan syndrome are often very tall, thin, and loose jointed. Most people with Marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. They may also have problems with their bones, eyes, skin, nervous system, and lungs. Marfan syndrome does not affect intelligence.

There is no single test to diagnose Marfan syndrome and it has no cure. Treatments can help delay or prevent complications and may include medicines, surgery, and other therapies.

When diagnosed early and properly treated, people with Marfan's syndrome can often live an average lifespan.

Although Marfan syndrome is present at birth, it is often not detected until later in life. Marfan syndrome affects individuals in different ways and can range from mild to severe. Some symptoms worsen with age.

Marfan Syndrome Affects the Skeleton

People with Marfan syndrome are often very tall, thin, and loose jointed. They may have:

• Long bones of the arms, legs, fingers, and toes
• A long, narrow face
• Crowded teeth because the roof of the mouth is arched
• A breastbone that sticks out or sinks in
• A curved spine
• Flat feet
• Stretch marks not related to weight gain or loss

Marfan Syndrome Affects the Heart and Blood Vessels

• A weakened part of the aorta can tear or rupture.
• Heart valves can leak and may cause murmur, shortness of breath, fatigue, and a very fast or uneven heart rate.

Marfan Syndrome Affects the Eyes

• Nearsightedness
• Glaucoma (high pressure within the eye) at a young age
• Cataracts (the eye’s lens becomes cloudy)
• A shift in one or both lenses of the eye
• A detached retina in the eye

Marfan Syndrome Affects the Skin

• Stretch marks.
• Hernia (part of an internal organ that pushes through an opening in the organ’s wall).

Marfan Syndrome Affects the Nervous System

The brain and spinal cord are covered by fluid and a membrane made of connective tissue which may weaken and stretch with age. This affects the bones in the lower backbone (spine). Symptoms of this problem include:

• Painful abdomen
• Painful, numb, or weak legs.

Marfan Syndrome Affects the Lungs

• Stiff air sacs in the lungs.
• A collapsed lung if the air sacs become stretched or swollen.
• Snoring or not breathing for short periods (called sleep apnea) while sleeping.

Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1, a protein in connective tissue. This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan syndrome and some related disorders.

Because some features of Marfan syndrome can worsen over time, like those affecting the heart and blood vessels, bones or joints, it is very important for people with Marfan syndrome and related disorders to receive accurate, early diagnosis and treatment. Without it, they can be at risk for potentially life-threatening complications. The earlier some treatments are started, the better the outcomes are likely to be.

• A detailed medical history
• Family history (information about any family members who have Marfan syndrome or who died at a young age from heart problems)
• A complete physical exam, including the length of the bones in the arms and legs
• An eye exam, including a “slit lamp” test
• Heart tests such as an echocardiogram (a test that uses ultrasound waves to look at the heart and aorta).
• Genetic testing may be helpful

While there is no cure for Marfan syndrome, people with this condition can live long full lives with proper management and treatment.

Having Marfan syndrome can cause social, emotional, and financial stress. People with Marfan syndrome may feel many strong emotions, including anger, fear, anxiety, depression, and stress. They may also be concerned about whether their children will have Marfan syndrome.

Let your family and friends know how you are feeling and how they can help you. Their support can help relieve your stress and anxiety.

Support from family, friends, your healthcare team, professional counselors, and patient support groups may help you adjust to living with Marfan syndrome.

It helps people with Marfan syndrome to have:

• Proper medical care
• Correct information
• Strong social support.

Genetic counseling may also help you learn about the disease and the risk of passing it on to your children. If you have Marfan syndrome, you have a 50 percent chance of passing the condition to each child you have. Even if you pass the gene on, your child's symptoms may be different than your symptoms.

Consult a geneticist, a cardiologist, and an obstetrician before getting pregnant to learn of your risks and options, and the risks to your baby.

There is no cure for Marfan syndrome, but some of the related problems may be prevented or managed with regular checkups and certain treatments. 

• An annual exam of the spine and breastbone is recommended.
• A back brace or surgery for severe spinal problems may be required.
• Have regular cardiology (heart) checkups and echocardiograms.
• Tell your doctor or go to an emergency room for pain in the chest, back, or abdomen.
• Wear a medical alert bracelet.
• You may need medicine for heart valve problems.
• Surgery to replace a valve or repair the aorta may be required if the problem is severe.
• Annual eye exams are recommended.
• Eyeglasses or contact lenses and sometimes surgery may be necessary.
• Do not smoke.
• See your doctor if you have any problems with breathing during sleep.
• Eating a balanced diet can help you maintain a healthy lifestyle, even though no vitamin or supplement can slow, cure, or prevent Marfan syndrome.

Advances have been made in the early diagnosis and treatment of Marfan syndrome. It's now possible for people who have Marfan syndrome to live longer and enjoy a good quality of life. Many people who have Marfan syndrome and are properly diagnosed and treated may live an average lifespan.

If you have Marfan syndrome, talk with your doctor about ongoing care and what types of physical activity are safe for you. If you're thinking about becoming pregnant, discuss the possible risks with your doctor.